Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

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1. Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion
   Yuwei Cheng, Christopher A. Tan, Agata Minor, Kelly Arndt, Latrice Wysinger, Dorothy Katherine Grange, Beth A. Kozel, Nathaniel H. Robin, Darrel Waggoner, Carrie A. Fitzpatrick et al. · 2013 · Molecular Genetics & Genomic Medicine
2. Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome
   Alina Kuźniacka, Jolanta Wierzba, Magdalena Ratajska, Beata Stefania Lipska-Ziętkiewicz, Magdalena Koczkowska, Monika Malinowska, Janusz Limon · 2012 · Journal of Applied Genetics
3. Overall and allele-specific expression of theSMC1Agene in female Cornelia de Lange syndrome patients and healthy controls
   Ilaria Parenti, Davide Rovina, Maura Masciadri, Anna Cereda, Jacopo Azzollini, Chiara Picinelli, Giuseppe Limongelli, Palma Finelli, Angelo Selicorni, Silvia Russo et al. · 2014 · Epigenetics
4. Comparable Low-Level Mosaicism in Affected and Non Affected Tissue of a Complex CDH Patient
   Danielle C. M. Veenma, Niels Beurskens, Hannie Douben, Bert J.F.M.M. Eussen, Petra Noomen, Lutgarde C. P. Govaerts, Els W.M. Grijseels, Maarten Hans Lequin, Ronald R. de Krijger, Dick Tibboel et al. · 2010 · PLoS ONE
5. Classical cornelia de lange syndrome
   Ev Badoe · 2010 · Ghana Medical Journal
6. A new gene for Tourette's syndrome: a window into causal mechanisms?
   Marco A. Grados, John T. Walkup · 2006 · Trends in Genetics
7. Chromosome Cohesion: A Cycle of Holding Together and Falling Apart
   Jennifer L. Gerton · 2005 · PLoS Biology
8. Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum
   Julia Schmidt, Steffi F. Dreha‐Kulaczewski, Maria-Patapia Zafeiriou, Marie-Kristin Schreiber, Bernd Wilken, Rudolf Funke, Christiane Michaela Neuhofer, Janine Altmüller, Hölger Thiele, Peter Nürnberg et al. · 2022 · Frontiers in Cell and Developmental Biology
9. A common molecular mechanism underlying Cornelia de Lange and CHOPS syndromes
   Toyonori Sakata, Shoin Tei, Kosuke Izumi, Ian D. Krantz, Masashige Bando, Katsuhiko Shirahige · 2025 · Current Biology
10. The Dynamic Architectural and Epigenetic Nuclear Landscape: Developing the Genomic Almanac of Biology and Disease
    Phillip W.L. Tai, Sayyed Kaleem Zaidi, Hai Wu, Rodrigo A. Grandy, Martin A. Montecino, André J. van Wijnen, Jane B. Lian, Gary S. Stein, Janet Lee Stein · 2013 · Journal of Cellular Physiology
11. A non-canonical role of the inner kinetochore in regulating sister-chromatid cohesion at centromeres
    Lu Yan, Xueying Yuan, Mingjie Liu, Qinfu Chen, Miao Zhang, Junfen Xu, Linghui Zeng, Long Zhang, Jun Huang, Weiguo Lü et al. · 2024 · The EMBO Journal
12. The Place of the Evil: Infant Abandonment in Old Norse Society
    Sean B. Lawing · 2013 · Scandinavian Studies
13. Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome
    Maria L. Helgeson, Jennifer Keller‐Ramey, Amy Knight Johnson, Jennifer A. Lee, Daniel B. Magner, Brett Deml, Jacea Deml, YingYing Hu, Zejuan Li, Kirsten Donato et al. · 2017 · Journal of Human Genetics
14. Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review
    Chen Liu, Xiaoying Li, Jing Cui, Rui Dong, Yvqiang Lv, Dong Wang, Haiyan Zhang, Xiaomei Li, Zilong Li, Jian Ma et al. · 2020 · Molecular Genetics & Genomic Medicine
15. Case report: Novel NIPBL-BEND2 fusion gene identified in osteoblastoma-like phosphaturic mesenchymal tumor of the fibula
    Tomohisa Sakai, Yusuke Okuno, Norihiro Murakami, Yoshie Shimoyama, Shiro Imagama, Yoshihiro Nishida · 2023 · Frontiers in Oncology
16. A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome
    Anna Cereda, Milena Mariani, Paola Rebora, Anna Sajeva, Paola Francesca Ajmone, Cristina Gervasini, Silvia Russo, Gaia Alessandra Kullmann, Grazia Valsecchi, Angelo Selicorni · 2016 · American Journal of Medical Genetics Part C Seminars in Medical Genetics
17. A case of Cornelia de Lange syndrome from Sudan
    Mona Mohammed Hashim Ellaithi, David Gisselsson, Therese Nilsson, Atif Abdelrahman Elagib, Imad Mohammed Fadl-Elmula, Mashair Abdelgadir · 2007 · BMC Pediatrics
18. Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes
    Cristina Gervasini, Rolph Pfundt, Paola Castronovo, Silvia Russo, Gaia Roversi, Maura Masciadri, Donatella Milani, Giuseppe Zampino, Angelo Selicorni, EFPM Schoenmakers et al. · 2008 · Clinical Genetics
19. Identification ofNIPBL, a newETV6partner gene in t(5;12) (p13;p13)-associated acute megakaryoblastic leukemia
    Etienne D. Braekeleer, Régis Auffret, Juan Ramón González Garcı́a, Janet M. Soto-Padilla, Carlos Córdova‐Fletes, Fréderic Morel, Nathalie Douet‐Guilbert, Marc De Braekeleer · 2012 · Leukemia & lymphoma/Leukemia and lymphoma
20. Cornelia de Lange syndrome: description of the orofacial features and case report.
    Maria Giulia Guadagni, Nicoletta Cetrullo, Gabriela Piana · 2008 · PubMed
21. C ornelia de L ange Syndrome
    David R FitzPatrick, Antonie D. Kline · 2005 · Wiley eBooks
22. Cohesin — bridging the gap among gene transcription, genome stability, and human diseases
    Maddalena Di Nardo, Antonio Musio · 2024 · FEBS Letters
23. Sticking a fork in cohesin – it's not done yet!
    Robert V. Skibbens · 2011 · Trends in Genetics
24. Cornelia De-Lange Syndrome: A Case Report
    Diana Noshir Mehta, Rupinder Bhatia · 2013 · International Journal of Clinical Pediatric Dentistry
25. Chl1 DNA helicase and Scc2 function in chromosome condensation through cohesin deposition
    Donglai Shen, Robert V. Skibbens · 2017 · PLoS ONE
26. Genetic enhancement of limb defects in a mouse model of Cornelia de Lange syndrome
    Martha E. Lopez‐Burks, Rosaysela Santos, Shimako Kawauchi, Anne L. Calof, Arthur D. Lander · 2016 · American Journal of Medical Genetics Part C Seminars in Medical Genetics
27. Down Syndrome, Other Full Aneuploidies, and Polyploidy
    R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
28. Cornelia de Lange Syndrome
    David R FitzPatrick, Antonie D. Kline · 2010 · Wiley eBooks
29. The Coiled Coils of Cohesin Are Conserved in Animals, but Not In Yeast
    Glenn E. White, Harold Erickson · 2009 · PLoS ONE
30. Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndrome
    Giovanna Olioso, Alice Passarini, Francesca Atzeri, Donatella Milani, Anna Cereda, Marta Cerutti, Silvia Beatrice Maitz, Francesca Menni, Angelo Selicorni · 2009 · American Journal of Medical Genetics Part A
31. Cornelia de Lange Syndrome with NIPBL Gene Mutation: A Case Report
    Kyung‐Hee Park, Seung‐Tae Lee, Chang‐Seok Ki, Shin Yun Byun · 2010 · Journal of Korean Medical Science
32. Identification of Functional Domains in the Cohesin Loader Subunit Scc4 by a Random Insertion/Dominant Negative Screen
    Michal Shwartz, Avi Matityahu, Itay Onn · 2016 · G3 Genes Genomes Genetics
33. A network of epigenetic modifiers and DNA repair genes controls tissue-specific copy number alteration preference
    Dina Cramer, Luis G. Serrano, Martin H. Schaefer · 2016 · eLife
34. Regulation of chromatin states and gene expression during HSN neuronal maturation is mediated by EOR-1/PLZF, MAU-2/cohesin loader, and SWI/SNF complex
    Yoichi Shinkai, Masahiro Kuramochi, Motomichi Doi · 2018 · Scientific Reports
35. A SIR-independent role for cohesin in subtelomeric silencing and organization
    Deepash Kothiwal, Shikha Laloraya · 2019 · Proceedings of the National Academy of Sciences
36. Behaviour across the lifespan in Cornelia de Lange syndrome
    Laura Groves, Chris Oliver, Joanna F. Moss · 2020 · Current Opinion in Psychiatry
37. Hereditary Hearing Impairment with Cutaneous Abnormalities
    Tung-Lin Lee, Pei‐Hsuan Lin, Pei‐Lung Chen, Jin‐Bon Hong, Chen‐Chi Wu · 2020 · Genes
38. Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome
    Natalia Krawczyńska, Alina Kuźniacka, Jolanta Wierzba, Ilaria Parenti, Frank J. Kaiser, Bartosz Wasąg · 2018 · Frontiers in Genetics
39. Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children
    Hui Dong Tang, Jing Guo, Siyuan Linpeng, Lingqian Wu · 2019 · Orphanet Journal of Rare Diseases
40. Trisomy 3q25.1-qter and monosomy 8p23.1-pter in a patient: Cytogenetic and molecular analysis with delineation of the phenotype
    G. Zafra de la Rosa, Carlos Alberto Venegas-Vega, Nancy Monroy‐Jaramillo, G. Contreras-Bucio, U Friedrich, Mette Houman, Abeer Saad, P. Fernández, Susana Kofman‐Alfaro, Alicia Cervantes · 2005 · American Journal of Medical Genetics Part A
41. Fortuitous detection of a submicroscopic deletion at 1q25 in a girl with Cornelia‐de Lange syndrome carrying t(5;13)(p13.1;q12.1) by array‐based comparative genomic hybridization
    Shin Hayashi, Masae Ono, Yoshio Makita, Issei Imoto, Shuki Mizutani, Johji Inazawa · 2007 · American Journal of Medical Genetics Part A
42. Cornelia de lange syndrome
    Naeimeh Tayebi · 2008 · Indian journal of human genetics
43. Roles of SMC Complexes During T Lymphocyte Development and Function
    Jason S Rawlings · 2016 · Advances in protein chemistry and structural biology
44. Defects of cohesin loader lead to bone dysplasia associated with transcriptional disturbance
    Weihuai Gu, Lihong Wang, Renjie Gu, Huiya Ouyang, Baicheng Bao, Liwei Zheng, Baoshan Xu · 2021 · Journal of Cellular Physiology
45. Transcription Pause and Escape in Neurodevelopmental Disorders
    Kristel N. Eigenhuis, Hedda B. Somsen, Debbie L. C. van den Berg · 2022 · Frontiers in Neuroscience
46. TOP-2 is differentially required for the proper maintenance of the cohesin subunit REC-8 on meiotic chromosomes in Caenorhabditis elegans spermatogenesis and oogenesis
    Christine Rourke, Aimee Jaramillo-Lambert · 2022 · Genetics
47. Cornelia de Lange syndrome: antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism ofNIPBLgene mutation
    Jan Weichert, Andreas Schröer, Daniel Alexander Beyer, Gabriele Gillessen‐Kaesbach, Irina Stefanova · 2011 · The Journal of Maternal-Fetal & Neonatal Medicine
48. Cornelia de Lange Syndrome: A Case Report of a Brazilian Boy
    Ana Carolina Scarpelli, Isabela Almeida Pordeus, Vera Lúcia Silva Resende, Lia Silva de Castilho, Leandro Silva Marques, Saul Martins Paiva · 2010 · The Cleft Palate-Craniofacial Journal
49. Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3
    Elena Infante, Gorka Alkorta‐Aranburu, Areeg El‐Gharbawy · 2017 · Clinical Case Reports
50. Novel mosaic variants in two patients with Cornelia de Lange syndrome
    Jelena Pozojevic, Ilaria Parenti, Luitgard Margarete Graul-Neumann, Sara Ruiz Gil, Erwan Watrin, Kerstin S. Wendt, Ralf Werner, Tim Matthias Strom, Gabriele Gillessen‐Kaesbach, Frank J. Kaiser · 2017 · European Journal of Medical Genetics
51. Integrating Sister Chromatid Cohesion Establishment to DNA Replication
    Caitlin M. Zuilkoski, Robert V. Skibbens · 2022 · Genes
52. Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation
    Carolina Baquero‐Montoya, María Concepción Gil‐Rodríguez, María Hernández-Marcos, Maria Esperanza Teresa‐Rodrigo, Alicia Vicente-Gabas, María Luisa Bernal, César Horacio Casale, Gloria Bueno, Inés Bueno Martínez, Ethel Queralt et al. · 2014 · European Journal of Medical Genetics
53. Disease-associated c-MYC downregulation in human disorders of transcriptional regulation
    Maria Michela Pallotta, Maddalena Di Nardo, Patrizia Sarogni, Ian D. Krantz, Antonio Musio · 2021 · Human Molecular Genetics
54. Co-essentiality analysis identifies PRR12 as a cohesin interacting protein and contributor to genomic integrity
    2024
55. Generation of corrected hiPSC clones from a Cornelia de Lange Syndrome (CdLS) patient through CRISPR-Cas-based technology
    Alessandro Umbach, Giulia Maule, Eyemen Kheir, Alessandro Cutarelli, Marika Foglia, Luca Guarrera, Luca L. Fava, Luciano Conti, Enrico Garattini, Mineko Terao et al. · 2022 · Stem Cell Research & Therapy
56. Malignant Bone‐Forming Neoplasm With NIPBL::BEND2 Fusion
    Nooshin Karamzadeh Dashti, George R. Matcuk, Abbas Agaimy, Carla Saoud, Cristina R. Antonescu · 2024 · Genes Chromosomes and Cancer
57. Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS
    Maura Masciadri, Anna Ficcadenti, Donatella Milani, Francesca Cogliati, Maria Teresa Divizia, Lidia Larizza, Silvia Russo · 2018 · Frontiers in Neurology
58. Targeted Gene Sequencing, Bone Health, and Body Composition in Cornelia de Lange Syndrome
    Ángel Matute-Llorente, Ángela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac, Laura Trujillano, Elena Llorente, Juan José Puente‐Lanzarote, Ariadna Ayerza Casas, María Arnedo, Luis Alberto Moreno et al. · 2021 · Applied Sciences
59. Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients
    Juliette Coursimault, Kévin Cassinari, François Lecoquierre, Olivier Quenez, Sophie Coutant, Céline Derambure, Myriam Vézain, Nathalie Drouot, Gabriella Vera, Élise Schaefer et al. · 2022 · Human Mutation
60. A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis
    Alessandro De Falco, Daniele De Brasi, Matteo Della Monica, Claudia Cesario, Stefano Petrocchi, Antonio Novelli, Giuseppe D’Alterio, Achille Iolascon, Mario Capasso, Carmelo Piscopo · 2023 · Genes
61. Genetic and genomic analyses of Drosophila melanogaster models of chromatin modification disorders
    Rebecca A. MacPherson, Vijay Shankar, Robert R. H. Anholt, Trudy F. C. Mackay · 2023 · Genetics
62. Linking Chromosome Duplication and Segregation via Sister Chromatid Cohesion
    Adam R. Leman, Eishi Noguchi · 2014 · Methods in molecular biology
63. From zebrafish heart jogging genes to mouse and human orthologs: using Gene Ontology to investigate mammalian heart development.
    Varsha Khodiyar, Doug Howe, Philippa J. Talmud, Ross A. Breckenridge, Ruth C. Lovering · 2013 · F1000Research
64. Syndromic associations with congenital anomalies of the fetal thorax and abdomen
    Jane A. Hurst, Helen V. Firth, Lyn S. Chitty · 2008 · Prenatal Diagnosis
65. Cornelia de Lange syndrome: Parental preferences regarding the provision of medical information
    Deborah A.R. Hinkson, Eshetu G. Atenafu, Shelley J. Kennedy, Sunita Vohra, Deepak Kumar Garg, Alex V. Levin · 2006 · American Journal of Medical Genetics Part A
66. Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome
    Mingyan Hei, Xiangyu Gao, Lingqian Wu · 2018 · BMC Pediatrics
67. Developmental anomalies of the lids
    Hélène Dollfus, Alain Verloès · 2013 · Elsevier eBooks
68. Cervical spine malformation in cornelia de lange syndrome: A report of three patients
    Laura Rachele Bettini, Laura Locatelli, Milena Mariani, Paola Cianci, Carlo Giorgio Giussani, Francesco Canonico, Anna Cereda, Silvia Russo, Cristina Gervasini, Andrea Biondi et al. · 2014 · American Journal of Medical Genetics Part A
69. Cornelia de Lange syndrome due to mosaic NIPBL mutation: antenatal presentation with sacrococcygeal teratoma
    Nishant Banait, Alan Charles Fenton, Miranda P. Splitt · 2015 · BMJ Case Reports
70. Sedation and general anesthesia for patients with Cornelia De Lange syndrome: A case series
    Alessandra Moretto, Vittorio Scaravilli, Valentina Ciceri, Mariagrazia Bosatra, Federica Giannatelli, Bianca Ateniese, Milena Mariani, Anna Cereda, Simone Sosio, Alberto Zanella et al. · 2016 · American Journal of Medical Genetics Part C Seminars in Medical Genetics
71. Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients
    Natalia Krawczyńska, Jolanta Wierzba, Jacek Jasiecki, Bartosz Wasąg · 2019 · BMC Medical Genetics
72. Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome
    Ilaria Bestetti, M. Crippa, Alessandra Sironi, Matteo Bellini, Francesca Tumiatti, Sara Ballabio, Ferruccio Ceriotti, Luigi Memo, Maria Rosaria Iascone, Lidia Larizza et al. · 2024 · Frontiers in Genetics
73. Exome hits demystified: The next frontier
    Dhruva Ithal, Salil Kalarikkal Sukumaran, Debanjan Bhattacharjee, Alekhya Vemula, Ravi Kumar Nadella, Jayant Mahadevan, Reeteka Sud, Biju Viswanath, Meera Purushottam, Sanjeev Jain · 2021 · Asian Journal of Psychiatry
74. Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome
    Marta Gil‐Salvador, Ana Latorre-Pellicer, Cristina Lucia‐Campos, María Arnedo, María Teresa Darnaude, Aránzazu Díaz de Bustamante, Rebeca Villares Alonso, Carmen Palma Milla, Beatriz Puisac, Antonio Musio et al. · 2022 · Frontiers in Genetics
75. Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome
    Libin Mei, Desheng Liang, Yanru Huang, Qian Pan, Lingqian Wu · 2014 · Gene
76. Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?
    Valeria Cavalleri, Laura Rachele Bettini, Chiara Barboni, Anna Cereda, Milena Mariani, Marco Spinelli, Cristina Gervasini, Silvia Russo, Andrea Biondi, Momcilo Jankovic et al. · 2015 · American Journal of Medical Genetics Part A
77. Zebrafish as a Model to Study Cohesin and Cohesinopathies
    Akihiko Muto, Thomas Friedrich Schilling · 2016 · Methods in molecular biology
78. Low speech rate but high gesture rate during conversational interaction in people with Cornelia de Lange syndrome
    Effie Pearson, E. Nielsen, Sotaro Kita, Laura Groves, Lisa Nelson, Joanna F. Moss, Chris Oliver · 2021 · Journal of Intellectual Disability Research
79. Cornelia de Lange syndrome.
    Nida Noor, Zehra Kazmi, Ayesha Mehnaz · 2012 · PubMed
80. Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome
    Laura Trujillano, Ariadna Ayerza Casas, Beatriz Puisac, Gonzalo González García, Ángela Ascaso, Ana Latorre-Pellicer, María Arnedo, Cristina Lucia‐Campos, Marta Gil‐Salvador, Frank J. Kaiser et al. · 2022 · The International Journal of Cardiovascular Imaging
81. Mutational Screening and Prenatal Diagnosis in Cornelia de Lange syndrome
    Usha Dave, Dhanlaxmi Lalit Shetty · 2013 · The Journal of Obstetrics and Gynecology of India
82. Parental age counseling and screening for fetal trisomy
    R. J. M. Gardner, Grant R. Sutherland, Lisa G. Shaffer · 2011 · Oxford University Press eBooks
83. Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior
    Matthew D. Shirley, Laurence P. Frelin, José Soria López, Anne Jedlicka, Amanda Dziedzic, Michelle A. Frank‐Crawford, Wayne P. Silverman, Louis P. Hagopian, Jonathan Pevsner · 2016 · PLoS ONE
84. David Weyhe Smith, MD (1926–1981)—The Father of Dysmorphology
    Jaime L. Frías · 2015 · Advances in Pediatrics
85. Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature
    Ramesh Kekunnaya, Bhamy Hariprasad Shenoy, Amit Gupta, Virender Sachdeva · 2014 · Oman Journal of Ophthalmology
86. Ventilation tube insertion is not effective to the treatment of hearing impairment in pediatric patients with Cornelia de Lange syndrome
    Jinsei Jung, Sera Park, Sung Huhn Kim, In Seok Moon, Kyu Rin Hwang, Jeon Mi Lee, Mi Young Bang, Jae Young Choi · 2016 · American Journal of Otolaryngology
87. The prevalence of hearing loss in children with congenital diaphragmatic hernia: A longitudinal population-based study
    Abdullah Alenazi, Gabrielle Derraugh, Mathew Levesque, Melanie I. Morris, Anna C. Shawyer, Suyin A. Lum Min, Richard Keijzer · 2020 · Journal of Pediatric Surgery
88. Cohesin Mutations Induce Chromatin Conformation Perturbation of the H19/IGF2 Imprinted Region and Gene Expression Dysregulation in Cornelia de Lange Syndrome Cell Lines
    Silvana Pileggi, Marta La Vecchia, Elisa Adele Colombo, Laura Fontana, Patrizia Colapietro, Davide Rovina, Annamaria Morotti, Silvia Maria Tabano, Giovanni Porta, Myriam Alcalay et al. · 2021 · Biomolecules
89. Face scanning and spontaneous emotion preference in Cornelia de Lange syndrome and Rubinstein-Taybi syndrome
    Hayley Crawford, Joanna F. Moss, Joseph P. McCleery, Giles M. Anderson, Chris Oliver · 2015 · Journal of Neurodevelopmental Disorders
90. Mutation Analysis in Chinese Patients with Cornelia de Lange Syndrome
    Qiulian Zhong, Desheng Liang, Jing Liu, Jinjie Xue, Lingqian Wu · 2012 · Genetic Testing and Molecular Biomarkers
91. Genetic considerations in recurrent congenital diaphragmatic hernia in two siblings
    Khalid M. AlFaleh, Kyong‐Soon Lee, Jennifer A. Ramsay, Margaret Nowaczyk · 2006 · Annals of Saudi Medicine
92. Syndromic Immunodeficiencies
    Jeffrey E. Ming, E. Richard Stiehm · 2016 · Springer eBooks
93. TGFβ−induced embryonic cell senescence at the origin of the Cornelia de Lange syndrome
    Céline Hachoud, Faten Chaabani, Erwan Watrin, Manuela Wuelling, Heiko Peters, Valérie Cormier‐Daire, Michel Pucéat · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
94. Cohesin: an emerging master regulator at the heart of cardiac development
    Michael G. Mfarej, Caitlin Hyland, Annie C. Sanchez, Matthias M. Falk, M. Kathryn Iovine, Robert V. Skibbens · 2023 · Molecular Biology of the Cell
95. ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome
    Haiyang Liu, Hao Li, Qixu Cai, Jie Zhang, Hongxin Zhong, Gongcheng Hu, Shuaizhu Zhao, Yuli Lu, Yudi Mao, Youming Lu et al. · 2025 · Proceedings of the National Academy of Sciences
96. Fdo1 , Fkh1 , Fkh2 , and the Swi6–Mbp1 MBF complex regulate Mcd1 levels to impact eco1 rad61 cell growth in Saccharomyces cerevisiae
    Gurvir Singh, Robert V. Skibbens · 2024 · Genetics
97. mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome
    Beatriz Puisac, Maria Esperanza Teresa‐Rodrigo, María Hernández-Marcos, Carolina Baquero‐Montoya, María-Concepción Gil-Rodríguez, Torkild Visnes, Christopher Bot, Paulino Gómez‐Puertas, Frank J. Kaiser, Feliciano J. Ramos et al. · 2017 · International Journal of Molecular Sciences
98. Double Syndromes:Autism Associated with Genetic, Medical and Metabolic Disorders
    Christopher Gillberg · 2010 · Oxford University Press eBooks
99. circRNA landscape of non-pregnant endometrium during the estrus cycle in dairy goats
    Xiao-rui Liu, Lei Zhang, Jiuzeng Cui, Lichun Yang, Jincheng Han, Sicheng Che, Binyun Cao, Guang Li, Yuxuan Song · 2021 · Journal of Integrative Agriculture
100. Fetal phenotype of Cornelia de Lange syndrome with a molecular confirmation
     Qiuxia Yu, Xiangyi Jing, Xiao‐Mei Lin, Li Zhen, Dong‐Zhi Li · 2023 · European Journal of Obstetrics & Gynecology and Reproductive Biology